Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DTNA	1837	broad.mit.edu	37	18	32459575	32459575	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr18:32459575A>G	ENST00000283365.9	+	19	2153	c.1802A>G	c.(1801-1803)gAt>gGt	p.D601G	DTNA_ENST00000601125.1_Missense_Mutation_p.D280G|DTNA_ENST00000269192.7_Missense_Mutation_p.D367G|DTNA_ENST00000399097.3_Missense_Mutation_p.D306G|DTNA_ENST00000556414.3_Missense_Mutation_p.D310G|DTNA_ENST00000590831.2_Missense_Mutation_p.D84G|DTNA_ENST00000595022.1_Missense_Mutation_p.D598G|DTNA_ENST00000591182.1_Missense_Mutation_p.D306G|DTNA_ENST00000399113.3_Missense_Mutation_p.D658G|DTNA_ENST00000598334.1_Missense_Mutation_p.D598G|DTNA_ENST00000269190.7_Missense_Mutation_p.D659G|DTNA_ENST00000399121.5_Missense_Mutation_p.D605G|DTNA_ENST00000444659.1_Missense_Mutation_p.D658G|DTNA_ENST00000598142.1_Missense_Mutation_p.D601G	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	658					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.D658G(1)|p.D306G(1)|p.D659G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGTTTGAGGATCTTGTTCCC	0.443000													3	77					0	0	0.004672	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													5	179					0	0	0.014758	0	0
ZIC3	7547	broad.mit.edu	37	X	136648858	136648858	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:136648858T>A	ENST00000287538.5	+	1	558	c.8T>A	c.(7-9)aTg>aAg	p.M3K	ZIC3_ENST00000370606.3_Missense_Mutation_p.M3K	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	3					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M3K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACGATGCTCCTGGAC	0.682000													3	3					0	0	0.009096	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453496	91453496	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:91453496A>C	ENST00000360468.3	+	9	1569	c.1551A>C	c.(1549-1551)ttA>ttC	p.L517F	MAN2A2_ENST00000431652.2_Intron|MAN2A2_ENST00000559717.1_Missense_Mutation_p.L517F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	517					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.L517F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACAAGAGCTTAGACCGAGTCC	0.592000													7	55					0	0	0.003080	0	0
C17orf47	284083	broad.mit.edu	37	17	56620680	56620680	+	Missense_Mutation	SNP	G	G	A	rs149389321		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:56620680G>A	ENST00000321691.3	-	1	1049	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	290								p.R290W(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTCTACCCGTGCAGAAACT	0.463000													4	108					0	0	0.009096	0	0
AQR	9716	broad.mit.edu	37	15	35149010	35149010	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:35149010G>C	ENST00000156471.5	-	35	4666	c.4441C>G	c.(4441-4443)Ccg>Gcg	p.P1481A		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1481						catalytic step 2 spliceosome	RNA binding	p.P1481A(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTCTCTTCCGGGGCAGATGTG	0.473000													7	77					0	0	0.003080	0	0
OR2W3	343171	broad.mit.edu	37	1	248059653	248059653	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:248059653C>A	ENST00000537741.1	+	3	1022	c.765C>A	c.(763-765)atC>atA	p.I255I	OR2W3_ENST00000360358.3_Silent_p.I255I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I255I(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAACATCATCTACATGT	0.527000													6	105					8.12818e-05	9.85759e-05	0.001984	1	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21142930	21142930	+	RNA	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:21142930A>C	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							GCTGAACTCAATTCCCCGTTA	0.433000													8	112					0	0	0.003080	0	0
BBS4	585	broad.mit.edu	37	15	73016905	73016905	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:73016905A>G	ENST00000268057.4	+	8	537	c.496A>G	c.(496-498)Agg>Ggg	p.R166G	BBS4_ENST00000395205.2_Missense_Mutation_p.R174G|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.R154G	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	166	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	p.R166G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAATCTTAATAGGCACGATCT	0.408000									Bardet-Biedl syndrome				3	91					0	0	0.004672	0	0
BCKDHB	594	broad.mit.edu	37	6	81053483	81053483	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:81053483A>C	ENST00000320393.6	+	10	1188	c.1141A>C	c.(1141-1143)Aag>Cag	p.K381Q	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.K381Q	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	381					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	p.K381Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGACAAATGGAAGTGTTATGA	0.393000													23	63					0	0	0.005443	0	0
KRT16	3868	broad.mit.edu	37	17	39767654	39767654	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:39767654C>G	ENST00000301653.4	-	3	778	c.714G>C	c.(712-714)gaG>gaC	p.E238D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	238	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.E238D(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CGATCTGCATCTCCAGGTCAG	0.632000													26	60					0	0	0.004656	0	0
KCTD3	51133	broad.mit.edu	37	1	215792243	215792243	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:215792243G>T	ENST00000259154.4	+	16	1872	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	526						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.Q526H(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTGAGATCCAGGCTGTTGACT	0.413000													13	52					0.000151284	0.000181541	0.016723	1	0
TTLL9	164395	broad.mit.edu	37	20	30496492	30496492	+	Missense_Mutation	SNP	G	G	A	rs117415805	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:30496492G>A	ENST00000375938.4	+	5	558	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	TTLL9_ENST00000375922.4_Missense_Mutation_p.R52Q|TTLL9_ENST00000310998.4_Missense_Mutation_p.R52Q|TTLL9_ENST00000535842.1_Missense_Mutation_p.R102Q|TTLL9_ENST00000375934.4_Missense_Mutation_p.R84Q|TTLL9_ENST00000375921.2_Missense_Mutation_p.R52Q			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	102	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.R102Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTCACTTCCGGAACCACTAT	0.562000													3	27					0	0	0.004672	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	64					0	0	0.009096	0	0
KRT31	3881	broad.mit.edu	37	17	39552825	39552825	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:39552825G>A	ENST00000251645.2	-	3	487	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	145	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.Y145Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTCGGTCTGGTACCTGCGCA	0.547000													4	44					0	0	0.014758	0	0
C1orf168	199920	broad.mit.edu	37	1	57252852	57252852	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:57252852C>A	ENST00000343433.6	-	4	1029	c.949G>T	c.(949-951)Gag>Tag	p.E317*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	317								p.E317*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACTTACCTCTCTGGAGACAGG	0.488000													8	99					1.58986e-06	2.10749e-06	0.008291	1	0
DHX37	57647	broad.mit.edu	37	12	125441662	125441662	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:125441662G>A	ENST00000308736.2	-	17	2275	c.2177C>T	c.(2176-2178)cCg>cTg	p.P726L	DHX37_ENST00000544745.1_Missense_Mutation_p.P513L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P726L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGGGCGTCGGGAAGGGGAA	0.622000													18	76					0	0	0.010504	0	0
C20orf26	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:20278871G>C	ENST00000245957.5	+	25	3339	c.3263G>C	c.(3262-3264)cGa>cCa	p.R1088P	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1088								p.R1088Q(3)|p.R1088P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458000													4	53					0	0	0.014758	0	0
XIRP2	129446	broad.mit.edu	37	2	168103814	168103814	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:168103814G>A	ENST00000409195.1	+	9	6001	c.5912G>A	c.(5911-5913)aGg>aAg	p.R1971K	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1971K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1749K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1796					actin cytoskeleton organization	cell junction	actin binding	p.R1971K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGTCCAGAGGAACAAAAAT	0.458000													6	51					0	0	0.001168	0	0
OR8U1	219417	broad.mit.edu	37	11	56143496	56143496	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:56143496A>T	ENST00000302270.1	+	1	397	c.397A>T	c.(397-399)Atg>Ttg	p.M133L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.M133L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCTATTGTATATGGTTGTAAT	0.443000													11	131					0	0	0.013537	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	30					0	0	0.014758	0	0
PRPF4	9128	broad.mit.edu	37	9	116053798	116053798	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:116053798T>C	ENST00000374199.4	+	14	1825	c.1424T>C	c.(1423-1425)aTc>aCc	p.I475T	PRPF4_ENST00000374198.4_Missense_Mutation_p.I476T			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	476						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	p.I476T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ACAGCCAAGATCTGGACGCAC	0.502000													3	83					0	0	0.004672	0	0
RPA4	29935	broad.mit.edu	37	X	96139775	96139775	+	Missense_Mutation	SNP	G	G	A	rs139569203	byFrequency	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:96139775G>A	ENST00000373040.3	+	1	869	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	156					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.V156M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CGAGTTCACCGTGCATATTCT	0.443000								Other identified genes with known or suspected DNA repair function					6	81					0	0	0.001168	0	0
NIPBL	25836	broad.mit.edu	37	5	37064848	37064848	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:37064848C>T	ENST00000282516.8	+	47	8768	c.8269C>T	c.(8269-8271)Cgc>Tgc	p.R2757C		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2757					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R2757C(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCGTGATGGCCGCAAACTGGT	0.453000													5	79					0	0	0.014758	0	0
TMTC1	83857	broad.mit.edu	37	12	29786142	29786142	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:29786142C>A	ENST00000256062.5	-	6	1215	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	TMTC1_ENST00000552618.1_Missense_Mutation_p.A418S|TMTC1_ENST00000551659.1_Missense_Mutation_p.A418S|TMTC1_ENST00000539277.1_Missense_Mutation_p.A356S|TMTC1_ENST00000381224.2_Missense_Mutation_p.A310S|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	356						integral to membrane	binding	p.A248S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAGATGGTGGCTAAGTTCCGC	0.483000													9	58					7.48243e-07	1.00353e-06	0.006214	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24565545	24565545	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:24565545G>A	ENST00000376862.3	+	3	1167	c.534G>A	c.(532-534)ccG>ccA	p.P178P	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	178					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.P178P(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGATGCCCCCGCGGGACCACC	0.547000													4	109					0	0	0.009096	0	0
RSF1	51773	broad.mit.edu	37	11	77378462	77378462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:77378462G>A	ENST00000308488.6	-	16	4128	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.R1245*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.R1024*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1276					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R1276*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTGTGCTTCGGCCCCGCTTT	0.488000													5	76					0	0	0.001168	0	0
SETD2	29072	broad.mit.edu	37	3	47155459	47155459	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47155459T>C	ENST00000409792.3	-	5	4664	c.4622A>G	c.(4621-4623)aAt>aGt	p.N1541S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1541	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.N1038S(1)|p.N1541S(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACCGTCTATTGGAACAATA	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								34	81					0	0	0.021022	0	0
SMAP2	64744	broad.mit.edu	37	1	40882768	40882768	+	Splice_Site	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:40882768G>T	ENST00000539317.1	+	9	1117	c.924_splice	c.e9+1	p.Q308_splice		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	388	Met-rich.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.?(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ACCTTACTCAGGTAAGCTACC	0.507000													3	19					6.4e-05	7.93218e-05	0.004672	1	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	98					0	0	0.014758	0	0
ADA	100	broad.mit.edu	37	20	43249764	43249764	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr20:43249764G>A	ENST00000372874.4	-	10	1004	c.870C>T	c.(868-870)taC>taT	p.Y290Y	PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Silent_p.Y266Y|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	290					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.Y290Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGTTGAGCGAGTAGTTAGCCT	0.463000									Adenosine Deaminase Deficiency				6	48					0	0	0.001168	0	0
CCDC158	339965	broad.mit.edu	37	4	77283379	77283379	+	Silent	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:77283379T>C	ENST00000388914.3	-	12	2072	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	640								p.A640A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCAGAGCCTGCATTCACCA	0.408000													3	180					0	0	0.001168	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043241	74043241	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:74043241A>C	ENST00000358602.4	-	2	519	c.403T>G	c.(403-405)Ttc>Gtc	p.F135V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.F22V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.F135V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	135					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.F135V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAAAATGAAAGACTCCACC	0.433000													6	50					0	0	0.001168	0	0
C6orf222	389384	broad.mit.edu	37	6	36298275	36298275	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:36298275A>T	ENST00000437635.2	-	2	370	c.193T>A	c.(193-195)Tct>Act	p.S65T		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	65								p.S65T(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCCTCTGCAGATGGAGCTGGG	0.632000													5	83					0	0	0.001984	0	0
KCNH1	3756	broad.mit.edu	37	1	211280615	211280615	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:211280615G>T	ENST00000367007.4	-	2	353	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	KCNH1_ENST00000271751.4_Missense_Mutation_p.Q62K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	62	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.Q62K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGCTTTTTTGCATCACTTCT	0.408000													22	114					2.98393e-07	4.04962e-07	0.016522	1	0
UNC13C	440279	broad.mit.edu	37	15	54707189	54707189	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:54707189A>G	ENST00000545554.1	+	18	4857	c.4857A>G	c.(4855-4857)caA>caG	p.Q1619Q	UNC13C_ENST00000537900.1_Silent_p.Q1617Q|UNC13C_ENST00000260323.11_Silent_p.Q1619Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1619					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q1619Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGTTTCCTCAAGAGCTGAACA	0.303000													6	46					0	0	0.001168	0	0
ITGAE	3682	broad.mit.edu	37	17	3664699	3664699	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:3664699A>T	ENST00000263087.4	-	5	529	c.431T>A	c.(430-432)cTt>cAt	p.L144H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	144					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L144H(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATCCTTACCAAGGTCGAAGAA	0.587000													4	71					0	0	0.009096	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185606	6185606	+	Silent	SNP	T	T	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:6185606T>G	ENST00000588304.1	+	11	1778	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Silent_p.S494S|ACSBG2_ENST00000591403.1_Silent_p.S494S|ACSBG2_ENST00000588485.1_Silent_p.S307S|ACSBG2_ENST00000252669.5_Silent_p.S494S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	494					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	p.S494S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTACACTCTGGGGATCTGG	0.557000													10	89					0	0	0.006214	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264217	160264217	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:160264217A>G	ENST00000264431.4	+	15	2941	c.2522A>G	c.(2521-2523)cAa>cGa	p.Q841R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	841	Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.Q829R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAAGATCTCCAAGACCTGTTT	0.413000													5	54					0	0	0.001168	0	0
SLC12A1	6557	broad.mit.edu	37	15	48527175	48527175	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:48527175G>C	ENST00000396577.3	+	9	1404	c.1189G>C	c.(1189-1191)Ggt>Cgt	p.G397R	SLC12A1_ENST00000558405.1_Missense_Mutation_p.G397R|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G397R|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G397R	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	397					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.G397R(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GATTCTTGCTGGTGCCAATAT	0.483000													40	101					0	0	0.013114	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911871	45911871	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:45911871G>T	ENST00000309424.3	+	3	1133	c.645G>T	c.(643-645)aaG>aaT	p.K215N	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K217N|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587000													5	107					0.014758	0.0166575	0.014758	1	0
NADK2	133686	broad.mit.edu	37	5	36211993	36211993	+	Silent	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:36211993T>A	ENST00000397338.1	-	7	545	c.324A>T	c.(322-324)ccA>ccT	p.P108P	NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000282512.3_Silent_p.P108P|NADK2_ENST00000506945.1_Silent_p.P108P|NADK2_ENST00000381937.4_Silent_p.P271P|NADK2_ENST00000514504.1_Silent_p.P271P					NAD kinase 2, mitochondrial									p.P108P(1)|p.P271P(1)									GTGCTCTCACTGGCAGAAGTT	0.378000													5	149					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32011811	32011811	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:32011811T>C	ENST00000375244.3	-	34	11560	c.11359A>G	c.(11359-11361)Aaa>Gaa	p.K3787E	TNXB_ENST00000375247.2_Missense_Mutation_p.K3785E|TNXB_ENST00000451343.1_Missense_Mutation_p.K216E			P22105	TENX_HUMAN	tenascin XB	3832	Fibronectin type-III 29.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.K216E(1)|p.K3787E(1)|p.K3852E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TAGGAGACTTTGAAGCTGTCC	0.617000													3	1					0	0	0.001984	0	0
RBP3	5949	broad.mit.edu	37	10	48385969	48385969	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr10:48385969G>T	ENST00000224600.4	-	2	3236	c.3123C>A	c.(3121-3123)aaC>aaA	p.N1041K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1041	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.N1041K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTAGCCAATGTTGTCCTCAA	0.507000													5	106					3.59834e-05	4.6091e-05	0.001168	1	0
SMAP2	64744	broad.mit.edu	37	1	40882769	40882769	+	Splice_Site	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:40882769G>T	ENST00000539317.1	+	9	1117		c.e9+1			NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.?(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CCTTACTCAGGTAAGCTACCC	0.507000													3	17					6.4e-05	7.93218e-05	0.004672	1	0
FZR1	51343	broad.mit.edu	37	19	3533341	3533341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:3533341C>T	ENST00000441788.2	+	12	1528	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	FZR1_ENST00000313639.8_Missense_Mutation_p.P342L|FZR1_ENST00000395095.3_Missense_Mutation_p.P431L	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	431					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	p.P431L(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAAGTACCCCTCCCTGACC	0.657000													4	53					0	0	0.009096	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377333	86377333	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:86377333C>T	ENST00000604798.1	-	7	1467	c.263G>A	c.(262-264)cGc>cAc	p.R88H	MGAT4C_ENST00000552435.2_Missense_Mutation_p.R88H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R88H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R88H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R117H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R88H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R88H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	88					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R88H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCTAGGTAGCGATAGGTGAC	0.318000													12	137					0	0	0.020292	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985257	140985257	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:140985257G>A	ENST00000298296.1	+	7	1713	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	MAGEC3_ENST00000544766.1_Silent_p.V273V|MAGEC3_ENST00000536088.1_Silent_p.V273V|MAGEC3_ENST00000443323.2_Silent_p.V193V|MAGEC3_ENST00000409007.1_Silent_p.V273V	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	571	MAGE 2.							p.V273V(2)|p.V571V(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGGAAGTGTTGAGTGCAA	0.493000													8	109					0	0	0.004482	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				32	58					0	0	0.015359	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803464	185803464	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:185803464C>G	ENST00000302277.6	+	4	3935	c.3341C>G	c.(3340-3342)gCt>gGt	p.A1114G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1114						intracellular	zinc ion binding	p.A1114G(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagctgcagctgcagccgca	0.522000													4	62					0	0	0.009096	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749976	79749976	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:79749976G>A	ENST00000305428.3	+	2	1562	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	496						integral to membrane		p.G496D(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCTGGTCAGGGCAAGTACAGT	0.537000													13	24					0	0	0.013537	0	0
PRDM7	11105	broad.mit.edu	37	16	90128521	90128521	+	Silent	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr16:90128521C>T	ENST00000407825.1	-	7	709	c.72G>A	c.(70-72)gtG>gtA	p.V24V	PRDM7_ENST00000325921.6_Silent_p.V24V|PRDM7_ENST00000449207.2_Silent_p.V230V			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	230	KRAB-related.					chromosome|nucleus	nucleic acid binding	p.V230V(1)|p.V24V(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCCCTTGTCCACTGCACTGT	0.567000													13	37					0	0	0.013537	0	0
UBD	10537	broad.mit.edu	37	6	29527451	29527451	+	Splice_Site	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:29527451C>A	ENST00000377050.4	-	1	251		c.e1+1		GABBR1_ENST00000355973.3_Intron	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D						aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	p.?(1)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCCAACTTACACAGAGGCAG	0.498000													9	117					0.000442599	0.000525587	0.006214	1	0
LAMB4	22798	broad.mit.edu	37	7	107696313	107696313	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:107696313A>G	ENST00000388781.3	-	25	3602	c.3519T>C	c.(3517-3519)ctT>ctC	p.L1173L	LAMB4_ENST00000388780.3_Silent_p.L1173L|LAMB4_ENST00000205386.4_Silent_p.L1173L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1173	Laminin EGF-like 13.				cell adhesion	basement membrane		p.L1173L(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTGACATTGAAGACAAGTAG	0.537000													20	35					0	0	0.021523	0	0
C12orf39	80763	broad.mit.edu	37	12	21679861	21679861	+	Silent	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr12:21679861G>T	ENST00000256969.2	+	2	214	c.48G>T	c.(46-48)ctG>ctT	p.L16L		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	16						extracellular region|nucleus|transport vesicle		p.L16L(1)		endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTCTTTTCCTGGTGTTTGTTT	0.448000													7	69					2.17888e-05	2.82264e-05	0.006214	1	0
SLC8A1	6546	broad.mit.edu	37	2	40342549	40342549	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:40342549C>A	ENST00000406785.1	-	8	2847	c.2658G>T	c.(2656-2658)gtG>gtT	p.V886V	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.V886V|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.V922V|SLC8A1_ENST00000408028.2_Silent_p.V914V|SLC8A1_ENST00000403092.1_Silent_p.V922V|SLC8A1_ENST00000542756.1_Silent_p.V917V|SLC8A1_ENST00000405269.1_Silent_p.V886V|SLC8A1_ENST00000402441.1_Silent_p.V886V|SLC8A1_ENST00000405901.3_Silent_p.V917V|SLC8A1_ENST00000406391.2_Silent_p.V886V|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	922					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.V922V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCAGCACCCCCACATTGATGA	0.562000													7	40					1.06961e-07	1.46911e-07	0.003080	1	0
SETD2	29072	broad.mit.edu	37	3	47142964	47142964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47142964G>A	ENST00000409792.3	-	8	5041	c.4999C>T	c.(4999-5001)Cag>Tag	p.Q1667*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1667	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.Q1667*(1)|p.Q1164*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTGGAACTGATAGTCAAAC	0.373000			"""N, F, S, Mis"""		clear cell renal carcinoma								15	229					0	0	0.006122	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045615	142045615	+	RNA	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:142045615A>G	ENST00000390392.3	+	0	254																											CATCTGGGGCATAACGCTATG	0.448000													26	245					0	0	0.008361	0	0
CGNL1	84952	broad.mit.edu	37	15	57823948	57823948	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr15:57823948T>C	ENST00000281282.5	+	14	3340	c.3262T>C	c.(3262-3264)Tct>Cct	p.S1088P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1088				S -> T (in Ref. 3; BAB55415).		myosin complex|tight junction	motor activity	p.S1088P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATTTGCTGTCTGAGAGGAT	0.443000													8	119					0	0	0.006214	0	0
ZNF711	7552	broad.mit.edu	37	X	84526181	84526181	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:84526181C>A	ENST00000360700.4	+	10	2657	c.1771C>A	c.(1771-1773)Caa>Aaa	p.Q591K	ZNF711_ENST00000276123.3_Missense_Mutation_p.Q545K|ZNF711_ENST00000542798.1_Missense_Mutation_p.Q387K|ZNF711_ENST00000395402.1_Missense_Mutation_p.Q553K|ZNF711_ENST00000373165.3_Missense_Mutation_p.Q545K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	545					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.Q545K(2)|p.Q555K(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGCAGATCAATCAAATCT	0.393000													10	38					6.40141e-05	7.93218e-05	0.010729	1	0
KLHL6	89857	broad.mit.edu	37	3	183217479	183217479	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:183217479T>C	ENST00000341319.3	-	4	1081	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	349								p.E349G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTTGGCCACCTCCAGGCGGCT	0.547000													4	122					0	0	0.014758	0	0
PPP1R21	129285	broad.mit.edu	37	2	48738497	48738497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:48738497A>T	ENST00000294952.8	+	21	2360	c.2203A>T	c.(2203-2205)Aag>Tag	p.K735*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.K724*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.K693*|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	735								p.K735*(1)|p.K724*(1)		endometrium(2)|kidney(4)|lung(9)	15						GACAACTACCAAGAGGAGTTA	0.373000													21	184					0	0	0.008871	0	0
BCL6B	255877	broad.mit.edu	37	17	6927925	6927925	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:6927925A>T	ENST00000293805.5	+	4	699	c.607A>T	c.(607-609)Aac>Tac	p.N203Y	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	203						nucleus	zinc ion binding	p.N203Y(1)		skin(1)	1						CATCGTGCTAAACTCTCAGGC	0.607000													6	114					0	0	0.001168	0	0
NRXN3	9369	broad.mit.edu	37	14	79117585	79117585	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr14:79117585C>A	ENST00000554719.1	+	3	509	c.18C>A	c.(16-18)gaC>gaA	p.D6E	NRXN3_ENST00000335750.5_Missense_Mutation_p.D6E	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.D6E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTCGGACGACTTCTTCTATG	0.522000													34	70					1.00001e-27	1.42501e-27	0.009718	1	0
ZNF655	79027	broad.mit.edu	37	7	99170026	99170026	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr7:99170026C>G	ENST00000424881.1	+	4	620	c.400C>G	c.(400-402)Ctt>Gtt	p.L134V	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.L99V|ZNF655_ENST00000252713.4_Missense_Mutation_p.L99V|ZNF655_ENST00000493277.1_Missense_Mutation_p.L134V|ZNF655_ENST00000419215.2_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	99					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.L99V(1)|p.L134V(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATTAGAAAGACTTCAGGAAAT	0.388000													23	44					0	0	0.014323	0	0
ZNF280C	55609	broad.mit.edu	37	X	129349244	129349244	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:129349244G>C	ENST00000370978.4	-	15	2055	c.1902C>G	c.(1900-1902)caC>caG	p.H634Q		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H634Q(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATATAGAAAAGTGGCTTGCAA	0.338000													3	163					0	0	0.004672	0	0
CDH10	1008	broad.mit.edu	37	5	24498627	24498627	+	Splice_Site	SNP	G	G	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:24498627G>C	ENST00000264463.4	-	9	1902	c.1393_splice	c.e9-1	p.N465_splice	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	465	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N465K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTTTGGGATTGTCTGGAAAAG	0.368000										HNSCC(23;0.051)			7	82					0	0	0.003080	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996575	111996575	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:111996575G>T	ENST00000305815.5	-	5	703	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151T	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	151					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.P151T(1)									GTTAGCATGGGATCTGAACTC	0.318000													14	110					4.93089e-13	6.93977e-13	0.020292	1	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													3	9					0	0	0.009096	0	0
TRPM6	140803	broad.mit.edu	37	9	77354328	77354328	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:77354328T>G	ENST00000451710.3	-	34	5774	c.5537A>C	c.(5536-5538)tAt>tCt	p.Y1846S	TRPM6_ENST00000449912.2_Missense_Mutation_p.Y1837S|TRPM6_ENST00000376864.4_Missense_Mutation_p.Y1846S|TRPM6_ENST00000376871.3_Missense_Mutation_p.Y679S|TRPM6_ENST00000376872.3_Missense_Mutation_p.Y797S|TRPM6_ENST00000361255.3_Missense_Mutation_p.Y1837S|TRPM6_ENST00000360774.1_Missense_Mutation_p.Y1842S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1842	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Y1842S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTGAAGGTATAGATCAATTT	0.368000													5	114					0	0	0.014758	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813103	25813103	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:25813103T>C	ENST00000244527.4	-	8	968	c.853A>G	c.(853-855)Act>Gct	p.T285A	SLC17A1_ENST00000427328.1_Intron|SLC17A1_ENST00000476801.1_Missense_Mutation_p.T285A|SLC17A1_ENST00000468082.1_Intron	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	285					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.T285A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACATTGGAGTGTATAGTGTC	0.353000													6	62					0	0	0.001984	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326928	52326928	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:52326928G>T	ENST00000436784.2	+	5	1418	c.1358G>T	c.(1357-1359)gGg>gTg	p.G453V	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	453					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.G453M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGCACCGATGGGCAGGATGGG	0.647000													7	65					0.00198382	0.0022844	0.001984	1	0
C19orf47	126526	broad.mit.edu	37	19	40842259	40842259	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:40842259G>A	ENST00000582783.1	-	3	198	c.186C>T	c.(184-186)gcC>gcT	p.A62A	C19orf47_ENST00000392035.2_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	62								p.A62A(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CATAATTGACGGCAGGTCCTG	0.567000													4	35					0	0	0.014758	0	0
PLEC	5339	broad.mit.edu	37	8	145049463	145049463	+	Silent	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr8:145049463A>G	ENST00000436759.2	-	2	112	c.75T>C	c.(73-75)ccT>ccC	p.P25P	PLEC_ENST00000527096.1_Silent_p.P25P	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	128	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P25P(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGTGTCCCCAGGGCTGGGCG	0.677000											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	29					0	0	0.001168	0	0
PIGO	84720	broad.mit.edu	37	9	35091859	35091859	+	Silent	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr9:35091859C>A	ENST00000378617.3	-	7	2419	c.2025G>T	c.(2023-2025)gcG>gcT	p.A675A	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Silent_p.A675A	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	675					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.A675A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACCAGCGCCGCCACACAAG	0.602000													4	40					0.000602214	0.000707757	0.014758	1	0
HPCA	3208	broad.mit.edu	37	1	33354743	33354743	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:33354743T>A	ENST00000373467.3	+	2	346	c.244T>A	c.(244-246)Ttt>Att	p.F82I	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	82	EF-hand 2.						actin binding|calcium ion binding	p.F82I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCATAGACTTTCGGGAGTT	0.567000													27	49					0	0	0.007291	0	0
PGAM4	441531	broad.mit.edu	37	X	77224418	77224418	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562000													3	86					0	0	0.004672	0	0
RARA	5914	broad.mit.edu	37	17	38510602	38510602	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:38510602T>A	ENST00000254066.5	+	7	1311	c.856T>A	c.(856-858)Ttc>Atc	p.F286I	RARA_ENST00000394086.3_Missense_Mutation_p.F302I|RARA_ENST00000394089.2_Missense_Mutation_p.F286I|RARA_ENST00000394081.3_Missense_Mutation_p.F281I|RARA_ENST00000425707.3_Missense_Mutation_p.F189I|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	286	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.F286T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CACCATGACCTTCTCGGACGG	0.637000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								10	47					0	0	0.008291	0	0
ALG9	79796	broad.mit.edu	37	11	111708285	111708285	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:111708285G>A	ENST00000398006.2	-	12	1752	c.844C>T	c.(844-846)Cca>Tca	p.P282S	ALG9_ENST00000531154.1_Missense_Mutation_p.P289S|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	453					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.P289S(1)|p.P685S(1)|p.P686S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TGGATGGTTGGGTCTGTAGCA	0.473000													19	30					0	0	0.008871	0	0
WDFY3	23001	broad.mit.edu	37	4	85626628	85626628	+	Silent	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:85626628G>A	ENST00000322366.6	-	53	8610	c.8203C>T	c.(8203-8205)Ctg>Ttg	p.L2735L	WDFY3_ENST00000295888.4_Silent_p.L2752L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2752	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.L2752L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCTTAGCCAGGTTTCTAAAC	0.393000													4	137					0	0	0.014758	0	0
RFX2	5990	broad.mit.edu	37	19	6016244	6016244	+	Silent	SNP	A	A	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:6016244A>C	ENST00000303657.5	-	7	785	c.636T>G	c.(634-636)ggT>ggG	p.G212G	RFX2_ENST00000592546.1_Silent_p.G187G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.G212G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G212G(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGACTCACACCTTCCGCTG	0.512000													5	49					0	0	0.003080	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326927	52326927	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:52326927G>A	ENST00000436784.2	+	5	1417	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	453					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.G453M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGGCACCGATGGGCAGGATGG	0.647000													5	67					0	0	0.014758	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:96706498C>A	ENST00000389672.5	+	3	813	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	EPHA6_ENST00000542517.1_Missense_Mutation_p.R165S|EPHA6_ENST00000470610.2_Missense_Mutation_p.R259S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	164						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R165S(2)|p.R259S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGGGTGATCGCATCCTCAA	0.443000													5	287					0.00198382	0.0022844	0.001984	1	0
TCEB3B	51224	broad.mit.edu	37	18	44560673	44560673	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr18:44560673G>T	ENST00000332567.4	-	1	1315	c.963C>A	c.(961-963)gaC>gaA	p.D321E	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	321					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.D321E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGTCCCGGCCGTCTAGACTGG	0.622000													11	134					9.70103e-10	1.34868e-09	0.008291	1	0
RARA	5914	broad.mit.edu	37	17	38510603	38510603	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr17:38510603T>C	ENST00000254066.5	+	7	1312	c.857T>C	c.(856-858)tTc>tCc	p.F286S	RARA_ENST00000394086.3_Missense_Mutation_p.F302S|RARA_ENST00000394089.2_Missense_Mutation_p.F286S|RARA_ENST00000394081.3_Missense_Mutation_p.F281S|RARA_ENST00000425707.3_Missense_Mutation_p.F189S|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	286	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.F286T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCATGACCTTCTCGGACGGG	0.637000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								10	46					0	0	0.008291	0	0
NLRP7	199713	broad.mit.edu	37	19	55447693	55447693	+	Missense_Mutation	SNP	G	G	A	rs143673542		TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:55447693G>A	ENST00000588756.1	-	8	2722	c.2236C>T	c.(2236-2238)Cgc>Tgc	p.R746C	NLRP7_ENST00000592784.1_Missense_Mutation_p.R746C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R718C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R746C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R718C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R774C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding	p.R718C(1)|p.R746C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATCATCGTGCGTTCCCACTCG	0.572000													5	29					0	0	0.014758	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711377	155711377	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr2:155711377C>A	ENST00000295101.2	+	3	1535	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	353					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAAGTCCCCACCCCACCTTAC	0.418000													6	102					8.12818e-05	9.85759e-05	0.001984	1	0
GPRASP2	114928	broad.mit.edu	37	X	101970221	101970221	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:101970221G>T	ENST00000543253.1	+	5	1343	c.424G>T	c.(424-426)Gca>Tca	p.A142S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A142S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A142S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.A142S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGTGTCACAGGCAGAAGGAGT	0.527000													12	170					3.07112e-06	4.02422e-06	0.010729	1	0
OR4C15	81309	broad.mit.edu	37	11	55322400	55322400	+	Silent	SNP	C	C	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr11:55322400C>T	ENST00000314644.2	+	1	618	c.618C>T	c.(616-618)ctC>ctT	p.L206L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L206L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CAGGGGGCCTCTTGCATTCCA	0.468000										HNSCC(20;0.049)			6	70					0	0	0.001168	0	0
CCNC	892	broad.mit.edu	37	6	99994324	99994324	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:99994324G>A	ENST00000520429.1	-	10	1070	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	CCNC_ENST00000520371.1_Nonsense_Mutation_p.Q209*|CCNC_ENST00000369220.4_Nonsense_Mutation_p.Q208*|CCNC_ENST00000518714.1_Nonsense_Mutation_p.Q209*|CCNC_ENST00000523985.1_Nonsense_Mutation_p.Q124*|CCNC_ENST00000523799.1_Nonsense_Mutation_p.Q124*	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	209					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.Q209*(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TCTTTCTGCTGTACAACACAG	0.363000													4	39					0	0	0.014758	0	0
PDZD2	23037	broad.mit.edu	37	5	32093041	32093041	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr5:32093041G>A	ENST00000438447.1	+	21	8144	c.7756G>A	c.(7756-7758)Gac>Aac	p.D2586N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D2586N			O15018	PDZD2_HUMAN	PDZ domain containing 2	2586					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.D2586N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAGCGGGGGACCAGCAAAG	0.348000													16	33					0	0	0.004990	0	0
PTPRC	5788	broad.mit.edu	37	1	198668699	198668699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr1:198668699delC	ENST00000367376.2	+	5	470	c.299delC	c.(298-300)tafs	p.S101fs	PTPRC_ENST00000352140.3_Frame_Shift_Del_p.S101fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.S103fs|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	101					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAGGTGTTTCATCAGTACAG	0.488											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	78	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47161858	47161859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr3:47161858_47161859insC	ENST00000409792.3	-	3	4309_4310	c.4267_4268insG	c.(4267-4269)cagfs	p.Q1423fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCTTTCTGTCCTGAAGCTCA	0.450			"""N, F, S, Mis"""		clear cell renal carcinoma								8	67	---	---	---	---					
FGB	2244	broad.mit.edu	37	4	155487738	155487738	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr4:155487738delA	ENST00000302068.4	+	3	467	c.404delA	c.(403-405)gafs	p.E135fs	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	135					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AACAATGTGGAAGCTGTTTCC	0.428													8	137	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90556397	90556398	+	RNA	INS	-	-	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr6:90556397_90556398insT	ENST00000551025.1	+	0	1492							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCTAAtttccttttttttttt	0.421													3	5	---	---	---	---					
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chr19:9361740_9361741insT	ENST00000456448.1	+	1	135_136	c.21_22insT	c.(19-24)ctttttfs	p.LF7fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386													4	7	---	---	---	---					
NXF4	55999	broad.mit.edu	37	X	101818163	101818163	+	RNA	DEL	C	C	-			TCGA-50-5942-01A-21D-1753-08	TCGA-50-5942-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95475c1b-086d-4e09-a871-47d8f76c1a07	a4369d21-eae0-469b-8ac3-75a0affb1e1f	g.chrX:101818163delC	ENST00000360035.2	+	0	753					NR_002216.1															endometrium(2)|lung(8)	10						TATGATGTCTCCCAGCAAGCT	0.537													9	161	---	---	---	---